Description
galactokinase 1 [Source:HGNC Symbol;Acc:4118]
Gene Synonyms
GALK, GK1, HEL-S-19
Location
Chromosome 17: 73,747,675-73,761,792 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000588479.1 | GALK1-001 | 1866 | 392aa | ENSP00000465930.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11728 | C8CHJ6 P51570 Q71UH7 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000225614.2 | GALK1-002 | 1445 | 392aa | ENSP00000225614.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11728 | C8CHJ6 P51570 Q71UH7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000437911.1 | GALK1-201 | 1379 | 422aa | ENSP00000406305.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E1G6 C8CHJ6 Q71UH7 | NM_000154.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000592997.1 | GALK1-007 | 717 | 184aa | ENSP00000464765.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EII7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000586244.1 | GALK1-003 | 1180 | 120aa | ENSP00000468288.1 | Nonsense mediated decay | K7ERJ9 | - | - | |
| ENST00000587707.1 | GALK1-006 | 667 | 91aa | ENSP00000468341.1 | Nonsense mediated decay | K7ERN9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000592494.1 | GALK1-004 | 1121 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000589030.1 | GALK1-005 | 866 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000586733.1 | GALK1-008 | 465 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000589643.1 | GALK1-009 | 313 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
